Brittle Bone What Is
Brittle bone disease, also called osteogenesis imperfecta (OI), is a rare genetic condition that affects the bones. It makes bones more likely to break (fracture) than normal.
OI is caused by a defect in the genes that control the production of collagen, a protein that strengthens bones. This can result in bones that are weak and fragile.
The severity of OI can vary significantly from person to person. Some people with OI have only a few fractures, while others may break bones hundreds of times. The condition can also affect other parts of the body, such as the teeth, skin, and eyes.
Symptoms of Brittle Bone Disease
Symptoms of OI can vary depending on the severity of the condition. Common symptoms include:
- Bone fractures. People with OI are much more likely to break bones than people without the condition. Fractures can occur with little or no trauma, and they may heal slowly.
- Bone pain. Bone pain is a common symptom of OI. The pain can be mild or severe, and it may come and go.
- Bone deformities. OI can cause bones to develop abnormally, which can lead to deformities such as bowed legs, knock-knees, and scoliosis.
- Short stature. OI can stunt growth, resulting in short stature.
- Blue or gray sclerae. The whites of the eyes may appear blue or gray in people with OI.
- Dentinogenesis imperfecta. This is a condition that affects the development of dentin, the hard tissue that makes up most of the tooth. Dentinogenesis imperfecta can cause teeth to be weak, discolored, and prone to cavities.
- Hearing loss. OI can cause hearing loss, which may be progressive or sudden.
- Breathing problems. OI can affect the shape of the chest, which can lead to breathing problems such as sleep apnea.
Treatment for Brittle Bone Disease
There is no cure for OI, but there are treatments that can help to improve symptoms and prevent fractures. Treatments for OI include:
- Medication. Medications such as bisphosphonates can help to strengthen bones and reduce the risk of fractures.
- Physical therapy. Physical therapy can help to improve strength, flexibility, and balance, which can help to reduce the risk of falls and fractures.
- Occupational therapy. Occupational therapy can help people with OI to learn how to perform everyday tasks without putting stress on their bones.
- Surgery. Surgery may be necessary to correct bone deformities or to repair fractures.
- Bracing. Bracing can help to support weakened bones and prevent fractures.
Outlook for Brittle Bone Disease
The outlook for people with OI varies depending on the severity of the condition. With proper treatment, many people with OI are able to live full and active lives. However, some people with OI may have significant disabilities and require lifelong care.